List of variants in gene EYS reported by Molecular Genetics Laboratory, Institute for Ophthalmic Research

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_001142800.2(EYS):c.3243+1G>A	rs1300490966	0.00003
NM_001142800.2(EYS):c.8035T>G (p.Cys2679Gly)	rs1064797324	0.00001
NM_001142800.2(EYS):c.2055T>A (p.Cys685Ter)	rs372354156
NM_001142800.2(EYS):c.2420del (p.Ser807fs)	rs1768038999
NM_001142800.2(EYS):c.2499T>G (p.Phe833Leu)	rs1554217626
NM_001142800.2(EYS):c.5413C>T (p.Gln1805Ter)	rs1766367970
NM_001142800.2(EYS):c.5802dup (p.Ile1935fs)	rs1455826633
NM_001142800.2(EYS):c.6174T>G (p.Tyr2058Ter)	rs1769471082
NM_001142800.2(EYS):c.6544_6547del (p.Asn2182fs)	rs1488052513
NM_001142800.2(EYS):c.67dup (p.Thr23fs)	rs1766217655
NM_001142800.2(EYS):c.7228G>T (p.Ala2410Ser)	rs915505702
NM_001142800.2(EYS):c.732T>A (p.Cys244Ter)	rs1562220891
NM_001142800.2(EYS):c.749-1G>C	rs368159852

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